Varaico: Literature-Extracted Genetic Variants

PDE8B

120 papers

RefSeq Summary

The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resis...

Pfam Domains

PDE8aa 1–44UCSCPDE8 phosphodiesterase

PDE8A_Naa 1–146UCSCPDE8A-like, N-terminal domain

PAS_9aa 155–259UCSCPAS domain

PAS_9aa 279–383UCSCPAS domain

PDE8_3rdaa 306–368UCSCPhosphodiesterase 8 third domain

PDE8_3rdaa 430–492UCSCPhosphodiesterase 8 third domain

Gene Aliases

HGNC Name

phosphodiesterase 8B

HGNC Alias Name

High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003719.5

p.P5delFs

c.14_15delCC

Surrounding Variants

1 paper

NM_003719.5

p.S6delFs

c.16delA

1 paper

NM_003719.5

p.S6delFs

c.17delG

1 paper

NM_003719.5

p.G2C

c.4G>T

1 paper

NM_003719.5

p.G2delFs

c.4delG

7 papers

NM_003719.5

p.M1V

c.1A>G

1 paper

NM_003719.5

p.H8Y

c.22C>T

1 paper

NM_003719.5

p.V9_S12delFs

c.25_35del11

1 paper

NM_003719.5

p.V9insFs

c.26_27ins7

1 paper

NM_003719.5

p.V9V

c.27C>G

1 paper

NM_003719.5

p.Q11_Y16delFs

c.33_46del14

1 paper

NM_003719.5

p.V14_I15del2

c.40_44del6

1 paper

NM_003719.5

p.R18R

c.52C>A